100K Genomes Project is moving forward with medicine centers to open in 2015

By Nuala Moran Staff Writer

LONDON – The UK is making headway with its ambition of becoming a world leader in the clinical application of genomics and personalized medicine, launching a competition for teaching hospitals to set up specialist Genomic Medicines Centers.

The Genomic Medicines Centers are to be established as part of the 100,000 Genomes Project, announced in December 2012, which is intended to make the National Health Service (NHS) the first mainstream health service in the world to embed genomics as a routine part of treatment. (See BioWorld International,Dec. 12, 2012.)

Under the project, 100,000 complete human genomes will be sequenced, with the data being applied to improve the treatment of rare diseases and common cancers. The individuals who have their genomes sequenced will be recruited by the Genomic Medicines Centers, which are due to be selected later in the year.

The centers will be in charge of DNA acquisition and sample preparation, and for capturing information on the clinical phenotypes. They then will be responsible for delivering clinical care, as informed by the whole genome sequence. The centers are due to start work in January 2015, with sequencing of 100,000 genomes completed by the end of 2017.

Announcing the opening of the bidding for Genomics Medicines Center status, the newly appointed chief executive of the NHS, Simon Stevens, pinpointed personalized medicine as one of the ways in which the health service can deal with the dual challenges of falling budgets and rising demand.

Genomics is leading to the "wholesale reclassification" of disease etiologies, Stevens said. "Common diseases may in fact be extended families of quite rare diseases. That'll require much greater stratification in individualized diagnosis and treatment," he said last month in his first major speech since taking up the post of chief executive.

The 100K Genomes Project is not a research project in any traditional sense; rather it is a program to change how clinical care is delivered. As one sign of Stevens' commitment to personalized medicine on the UK's leading clinical geneticists, John Burn, former director of Newcastle University's Institute of Genetic Medicine, has been appointed to the board of NHS England.

Stevens, who before taking up the NHS post was vice president of the U.S. managed health care company, United Health Group Inc., of Minnetonka, Minn., also announced the upgrading of existing regional genetics centers to "industrialize" their capabilities.

Since the 100K Genomes Project was launched with £100 million (US$171.6 million) in government funding, the focus has been on setting up a large-scale genome sequencing and annotation facility to process the DNA samples acquired by the Genomic Medicines Centers. That tendering process, which is being handled by Genomics England Ltd., the publicly owned company set up to deliver the project, has now been completed.

Genomics England also has awarded grants to a number of small companies to fund development of products and services for the management and manipulation of genomics data, allowing it to be factored into clinical decision-making.

In addition, late last year Genomics England set up two pilots as pathfinders for the main program. In one, with Cambridge University, 10,000 genomes of patients with rare diseases and their biological parents are to be sequenced. The rare diseases patients are being recruited from specialists centers at university hospitals across the country.

The second pilot, in partnership with the charity Cancer Research UK, is sequencing the genomes of 3,000 cancer patients and of their tumors.

Based on early examination of genomics data coming out of those two pilots, several types of rare diseases and some specific cancers have been selected as the targets of the full-scale program. In rare diseases, the emphasis will be on sequencing genomes of patients who do not have specific diagnoses. Those will include inherited cardiac disease, inherited renal disease, inherited neurological conditions, unexplained intellectual disability, connective tissue disorders, inborn errors of metabolism and congenital deafness.

In cancer, breast, colorectal, ovarian, lung, prostate, kidney and hematological and pediatric cancers will be sequenced.

Sequencing a genome as a (prospective) basis for treatment calls for greater accuracy in reading DNA than is required for research purposes. As a result, clinical-quality sequencing is more expensive and, as yet, is not routine.

Through the pilots, Genomic England aims to sequence 8,000 whole genomes by 2015. It is hoped that will create a market for sequencing and associated services, and attract private investment in the field.